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Article

PAK1 (p21-Activated Kinase 1) and Its Role in Neurodevelopmental Disorders-New Case Report and a Comprehensive Review.

International journal of molecular sciences - 31 Dec 2025

Blek Natasza, Pielas Mikołaj, Kharytonov Volodymyr, Rutkowska Karolina, Rusecka Joanna, Lewicki Sławomir, Płoski Rafał, Zwoliński Piotr

Abstract excerpt

Pathogenic variants in the PAK1 gene are linked to neurodevelopmental and neurodegenerative disorders by disrupting neuronal signaling and function. Despite increasing recognition, the mechanisms underlying these conditions remain incompletely understood, limiting therapeutic options. Here, we report a novel de novo PAK1 variant, c.396C>A (p.Asn132Lys), in a 5-year-old girl with Intellectual Developmental...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41516310
DOI: 10.3390/ijms27010439
PMCID: PMC12787292

Genes

PAK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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